马凡氏综合征英文简写

马凡氏综合征英文简写

Marfan syndrome (MFS) is a rare genetic disorder that affects

connective tissue, most notably in the heart, blood vessels, bones,

joints, and eyes. The condition is caused by a mutation in the

FBN1 gene, which encodes for fibrillin-1, a protein that is essential

for the formation of elastic fibers in connective tissue.

Patients with Marfan syndrome often have tall vertical height, long

limbs, and a disproportionately long wingspan. They may also

have a long, narrow face with a high-arched palate and crowded

teeth. The chest may show a high-arched or funnel-shaped

appearance, and some patients may develop scoliosis or other

spinal abnormalities. The joints are typically hypermobile, and

individuals with Marfan syndrome are often able to extend their

thumbs across the palm of their hand.

One of the most serious manifestations of Marfan syndrome is

aortic root dilation, which can lead to aortic dissection or rupture.

Aortic dissection occurs when the inner layer of the aortic wall

tears, allowing blood to flow between the layers and potentially

leading to life-threatening bleeding. Other cardiovascular

complications in Marfan syndrome include mitral valve prolapse,

aortic valve regurgitation, and arrhythmias.

Ocular manifestations of Marfan syndrome include myopia

(nearsightedness) and lens dislocation. The lens dislocation occurs

when the ligament that holds the lens in place becomes weak or

stretchy, causing the lens to move out of its normal position. This

can lead to blurred vision, double vision, and other visual

disturbances.

Diagnosis of Marfan syndrome is based on clinical criteria

established by the Ghent Nosology. This criteria takes into account

various physical and systemic features of the disorder. Genetic

testing can be performed to confirm the diagnosis and identify the

specific FBN1 gene mutation.

Management of Marfan syndrome focuses on the prevention of

cardiovascular complications. Beta-blockers and other medications

may be prescribed to reduce the risk of aortic dissection. Regular

monitoring of cardiac function and aortic diameter is essential to

detect any changes that may require intervention. Surgical repair or

replacement of the aorta may be necessary in severe cases.

Other treatment strategies for Marfan syndrome include orthopedic

measures to address any skeletal abnormalities, such as scoliosis or

joint dislocation. Vision correction may be necessary for those

with significant myopia or lens dislocations. Genetic counseling is

important for patients and their families to understand inheritance

patterns and risks of passing the condition on to future generations.

Marfan syndrome is an autosomal dominant disorder, meaning that

an affected individual has a 50% chance of passing the condition

on to each of their children. Genetic testing and counseling can

help individuals make informed decisions about family planning

and reproductive options.

In conclusion, Marfan syndrome is a complex genetic disorder that

affects multiple systems in the body. Although the condition

cannot be cured, early diagnosis and appropriate management can

help reduce the risk of life-threatening complications and improve

the quality of life for individuals with Marfan syndrome. Ongoing

research and advancements in medical technology hold promise for

better understanding and treatment of this rare disorder.